Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205745
rs786205745
0.730 GeneticVariation BEFREE Classical Timothy syndrome type 1 (TS1) results from a recurrent de novo CACNA1C mutation, G406R in exon 8 A. 25691416

2015

dbSNP: rs79891110
rs79891110
0.730 GeneticVariation BEFREE Classical Timothy syndrome type 1 (TS1) results from a recurrent de novo CACNA1C mutation, G406R in exon 8 A. 25691416

2015

dbSNP: rs786205745
rs786205745
0.730 GeneticVariation BEFREE Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). 23580742

2013

dbSNP: rs79891110
rs79891110
0.730 GeneticVariation BEFREE Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). 23580742

2013

dbSNP: rs786205745
rs786205745
0.730 GeneticVariation BEFREE All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C). 21910241

2011

dbSNP: rs79891110
rs79891110
0.730 GeneticVariation BEFREE All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C). 21910241

2011

dbSNP: rs786205745
rs786205745
C 0.730 CausalMutation CLINVAR Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078

2004

dbSNP: rs786205745
rs786205745
A 0.730 CausalMutation CLINVAR

dbSNP: rs79891110
rs79891110
A 0.730 CausalMutation CLINVAR

dbSNP: rs80315385
rs80315385
0.710 GeneticVariation BEFREE Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). 23580742

2013

dbSNP: rs794727587
rs794727587
0.710 GeneticVariation BEFREE Initial targeted mutation analysis did not identify either of the previously described TS associated mutations; however, full gene sequencing detected a novel CACNA1C gene mutation (p.Ala1473Gly). 22106044

2012

dbSNP: rs794727587
rs794727587
G 0.710 CausalMutation CLINVAR

dbSNP: rs80315385
rs80315385
A 0.710 CausalMutation CLINVAR

dbSNP: rs730880056
rs730880056
C 0.700 GeneticVariation CLINVAR

dbSNP: rs730880056
rs730880056
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61752115
rs61752115
0.020 GeneticVariation BEFREE The immunofluorescent staining with anti-Pex13p antibody also revealed TS phenotype of the I326T mutant protein itself in the patient cells. 16006427

2005

dbSNP: rs61752115
rs61752115
0.020 GeneticVariation BEFREE A more mildly affected NALD patient (H-01), whose fibroblasts showed the temperature-sensitive (TS) phenotype, was homozygous for a missense mutation in the SH3 domain of Pex13p, I326T. 10332040

1999

dbSNP: rs374528680
rs374528680
0.010 GeneticVariation BEFREE Thus, the increased repolarization dispersion caused by the G1911R mutation is a primary factor that may primarily contribute to the genesis of cardiac arrhythmias in Timothy Syndrome. 27502440

2016

dbSNP: rs797044881
rs797044881
0.010 GeneticVariation BEFREE Whole exome sequencing revealed a novel CACNA1C mutation, p.Ile1166Thr, in a young male with diagnosed TS. 25260352

2015

dbSNP: rs587782933
rs587782933
0.010 GeneticVariation BEFREE Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). 23580742

2013